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Topic Review
Mitogen-Activated Protein Kinase Signaling Pathway
The basic composition of the mitogen-activated protein kinase (MAPK) pathway is divided into three modules in sequence, with a cascade effect: MAPK kinase kinase (MAPKKK), MAPK kinase (MAPKK), and MAPK. The MAPK signaling pathway is activated in over 50% of human oral cancer cases.
  • 1.5K
  • 11 Oct 2022
Topic Review
Ferroptosis in Liver Diseases
Ferroptosis is an iron-dependent form of cell death characterized by intracellular lipid peroxide accumulation and redox imbalance. Ferroptosis shows specific biological and morphological features when compared to the other cell death patterns. The loss of lipid peroxide repair activity by glutathione peroxidase 4 (GPX4), the presence of redox-active iron and the oxidation of polyunsaturated fatty acid (PUFA)-containing phospholipids are considered as distinct fingerprints of ferroptosis. Several pathways, including amino acid and iron metabolism, ferritinophagy, cell adhesion, p53, Keap1/Nrf2 and phospholipid biosynthesis, can modify susceptibility to ferroptosis. Through the decades, various diseases, including acute kidney injury; cancer; ischemia-reperfusion injury; and cardiovascular, neurodegenerative and hepatic disorders, have been associated with ferroptosis. Here, we provide a short overview of the main biological and biochemical mechanisms of ferroptosis. The contribution of ferroptosis to the spectrum of liver diseases, acute or chronic is also reported. Finally, we discuss the use of ferroptosis as a therapeutic approach against hepatocellular carcinoma, the most common form of primary liver cancer.
  • 1.5K
  • 21 Jul 2020
Topic Review
TNF
TNF is a gene that plays an essential role in the body, it affects both immune response and inflammation. The gene encodes a protein called tumour necrosis factor alpha (TNFα) [1].
  • 1.5K
  • 05 Nov 2020
Topic Review
Maple Syrup Urine Disease
       Maple Syrup Urine Disease (MSUD) is caused by a deficiency of branched-chain α-ketoacid dehydrogenase (BCKD). It is a metabolic disorder characterized by increased levels of branched-chain amino acids (BCAAs) and their respective branched-chain α-ketoacids (BCKAs) [1]. 
  • 1.4K
  • 26 Oct 2020
Topic Review
Mitochondrial DNA
Increasing evidence implicates mitochondrial dysfunction in the etiology of Parkinson’s disease (PD). Mitochondrial DNA (mtDNA) mutations represent a possible cause and this mechanism might be shared with the aging process and with other age-related neurodegenerative disorders such as Alzheimer’s disease (AD). We have recently proposed a computerized method for mutated mtDNA characterization able to discriminate between AD and aging. Dealing with mtDNA mutation-based profiling of neurodegenerative disease(s), peripheral blood mtDNA sequences from late-onset PD patients and age-matched controls were analyzed and compared to the revised Cambridge Reference Sequence (rCRS). The chaos game representation (CGR) method, modified to visualize heteroplasmic mutations, was used to display fractal properties of mtDNA sequences and fractal lacunarity analysis was applied to quantitatively characterize PD based on mtDNA mutations. Parameter β, from the hyperbola model function of our lacunarity method, was statistically different between PD and control groups when comparing mtDNA sequence frames corresponding to GenBank np 5713-9713. Our original method, based on CGR and lacunarity analysis, represents a useful tool to analyze mtDNA mutations. Lacunarity parameter β is able to characterize individual mutation profile of mitochondrial genome and could represent a promising index to discriminate between PD and aging.
  • 1.4K
  • 29 Oct 2020
Topic Review
SOX2 Anophthalmia Syndrome
SOX2 anophthalmia syndrome is a rare disorder characterized by abnormal development of the eyes and other parts of the body.
  • 1.4K
  • 24 Dec 2020
Topic Review
Cladistics
Cladistics (/kləˈdɪstɪks/; from grc κλάδος (kládos) 'branch') is an approach to biological classification in which organisms are categorized in groups ("clades") based on hypotheses of most recent common ancestry. The evidence for hypothesized relationships is typically shared derived characteristics (synapomorphies) that are not present in more distant groups and ancestors. However, from an empirical perspective, common ancestors are inferences based on a cladistic hypothesis of relationships of taxa whose character states can be observed. Theoretically, a last common ancestor and all its descendants constitute a (minimal) clade. Importantly, all descendants stay in their overarching ancestral clade. For example, if the terms worms or fishes were used within a strict cladistic framework, these terms would include humans. Many of these terms are normally used paraphyletically, outside of cladistics, e.g. as a 'grade', which are fruitless to precisely delineate, especially when including extinct species. Radiation results in the generation of new subclades by bifurcation, but in practice sexual hybridization may blur very closely related groupings. As a hypothesis, a clade can only be rejected if some groupings were explicitly excluded. It may then be found that the excluded group did actually descend from the last common ancestor of the group, and thus emerged within the group. ("Evolved from" is misleading, because in cladistics all descendants stay in the ancestral group). Upon finding that the group is paraphyletic this way, either such excluded groups should be granted to the clade, or the group should be abolished. Testifying to human focus, bias and perhaps exceptionalism, humans have never been placed in a paraphyletic group, whereas most other organisms have been. Branches down to the divergence to the next significant (e.g. extant) sister are considered stem-groupings of the clade, but in principle each level stands on its own, to be assigned a unique name. For a fully bifurcated tree, adding a group to a tree also adds an additional (named) clade, and potentially a new level. Specifically, also extinct groups are always put on a side-branch, not distinguishing whether an actual ancestor of other groupings was found. The techniques and nomenclature of cladistics have been applied to disciplines other than biology. (See phylogenetic nomenclature.) Cladistics findings are posing a difficulty for taxonomy, where the rank and (genus-)naming of established groupings may turn out to be inconsistent. Cladistics is now the most commonly used method to classify organisms.
  • 1.4K
  • 19 Oct 2022
Topic Review
Childhood Asthma
Asthma is a complex and multifactorial respiratory disease with a high prevalence in the pediatric population. Variation in treatment response to asthma therapies has been described among patients, and difficult-to-treat asthma carries both high healthcare and socioeconomic burden to the patients and society. Omic studies can be used to discover the molecular mechanisms underlying asthma susceptibility and treatment response, contributing to a better knowledge and definition of asthma pathogenesis and therefore, to the development of precision medicine. This entry aims to summarize the recent findings of omic studies of treatment response in childhood asthma. Between 2018-2019 a total of 13 omic studies has been performed involving genomics, epigenomics, transcriptomics, metabolomics, and the microbiome. These have been focused on the response to three common asthma medications: short-acting beta agonists, inhaled corticosteroids, and leukotriene receptor antagonists. Novel associations of different biomarkers with asthma treatment response have been described. However, stronger evidence and more consistent results are required to implement these molecular biomarkers into clinical practice by establishing the most appropriate therapy for each patient.
  • 1.4K
  • 29 Oct 2020
Topic Review
Au-Kline Syndrome
Au-Kline syndrome is a condition that affects many body systems. Individuals with this condition typically have weak muscle tone (hypotonia), intellectual disability, and delayed development. Speech is delayed in children with Au-Kline syndrome, and some are able to say only one or a few words or are never able to speak. In addition, affected children learn to walk later than usual, and some are never able to walk on their own.
  • 1.3K
  • 24 Dec 2020
Topic Review
Testis-Determining Factor
An Error has occurred retrieving Wikidata item for infobox Testis-determining factor (TDF), also known as sex-determining region Y (SRY) protein, is a DNA-binding protein (also known as gene-regulatory protein/transcription factor) encoded by the SRY gene that is responsible for the initiation of male sex determination in therian mammals (placental mammals and marsupials). SRY is an intronless sex-determining gene on the Y chromosome. Mutations in this gene lead to a range of disorders of sex development (DSD) with varying effects on an individual's phenotype and genotype. TDF is a member of the SOX (SRY-like box) gene family of DNA-binding proteins. When complexed with the SF1 protein, TDF acts as a transcription factor that causes upregulation of other transcription factors, most importantly SOX9. Its expression causes the development of primary sex cords, which later develop into seminiferous tubules. These cords form in the central part of the yet-undifferentiated gonad, turning it into a testis. The now-induced Leydig cells of the testis then start secreting testosterone, while the Sertoli cells produce anti-Müllerian hormone. SRY gene effects normally take place 6–8 weeks after fetus formation which inhibits the female anatomical structural growth in males. It also works towards developing the dominant male characteristics.
  • 1.3K
  • 25 Oct 2022
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